A novel dysmorphic syndrome with open calvarial sutures and sutural cataracts maps to chromosome 14q13-q21

Human Genetics

Volumn 113, Issue 1, 2003, Pages 1-9

  Boyadjiev, Simeon A ^a,h   Justice, Cristina M ^c   Eyaid, Wafaa ^d   McKusick, Victor A ^a   Lachman, Ralph S ^e   Chowdry, Arnab B ^a   Jabak, Monzer ^f   Zwaan, Johan ^f,g   Wilson, Alexander F ^c   Jabs, Ethylin Wang ^a,b  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b JOHNS HOPKINS UNIVERSITY   (United States)

^c NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^d KING FAHAD MEDICAL CITY   (Saudi Arabia)

^e UNIVERSITY OF CALIFORNIA   (United States)

^f KING KHALED EYE SPECIALIST HOSPITAL   (Saudi Arabia)

^g UNIVERSITY OF TEXAS HEALTH SCIENCE CENTER AT SAN ANTONIO   (United States)

^h JOHNS HOPKINS HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR GATA 1; MICROSATELLITE DNA;

ANTERIOR FONTANEL; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CAPILLARY HEMANGIOMA; CATARACT; CENTROMERE; CHROMOSOME 14Q; CHROMOSOME 21Q; CLINICAL ARTICLE; CLINICAL FEATURE; CLONING; CRANIOFACIAL MALFORMATION; FAMILIAL INCIDENCE; FEMALE; GENE LINKAGE GROUP; GENE LOCATION; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; HAPLOTYPE; HOMOZYGOSITY; HUMAN; HYPERPIGMENTATION; MALE; PHENOTYPE; PRIORITY JOURNAL; TELOMERE; CHROMOSOME 14; CHROMOSOME MAP; CONGENITAL MALFORMATION; CRANIAL SUTURE; GENETIC LINKAGE; GENETICS; GENOTYPE; INFANT; MULTIPLE MALFORMATION SYNDROME; PATHOLOGY; PEDIGREE; PRESCHOOL CHILD; RECESSIVE GENE; SAUDI ARABIA; SYNDROME;

ABNORMALITIES, MULTIPLE; CATARACT; CHILD, PRESCHOOL; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 14; CRANIAL SUTURES; CRANIOFACIAL ABNORMALITIES; FEMALE; GENES, RECESSIVE; GENOTYPE; HAPLOTYPES; HUMANS; INFANT; LINKAGE (GENETICS); LOD SCORE; MALE; MICROSATELLITE REPEATS; PEDIGREE; SAUDI ARABIA; SYNDROME;

EID: 0037559311     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-003-0932-6     Document Type: Article

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